The Mystery of Akhenaten: Genetics or Aesthetics?

by Megaera Lorenz(1996)

While Akhenaten led a reform on the
Ancient Egyptian religion, he also revolutionized Egyptian art. He broke
the conventions of Egyptian art by showing himself in warm family scenes
with his wife and children, and portraying himself and the rest of the
royal family in a much more human and naturalistic manner than any of his
predescessors had. The most peculiar result of this art reform, however,
was the portrayal of the physical characteristics of the pharaoh himself. In sculptures and paintings of Akhenaten,
he is shown as having a long, slender neck, a long face with a sharp chin,
narrow, almond-shaped eyes, full lips, long arms and fingers, rounded thighs
and buttocks, a soft belly, and enlarged breasts. His odd appearance was
particularly prominent in art from the early part of the reign. One early
statue portrays the king in the nude and without genitalia of any kind. These features have puzzled archaeologists
since Akhenaten was first discovered in the early nineteenth century, and
people have offered many explanations as to why he looked this way. One of the early theories was that
Akhenaten was actually a woman disguised as a man, and was following in
Queen Hatshepsut's footsteps, but this idea has been abandoned (Aldred,
C., 1988, pg. 231). The theory that is most in favor at this time is that
Akhenaten suffered from some kind of illness or syndrome which caused his
odd appearance. The two most likely possibilities proposed in recent years
are Froehlich's Syndrome (Aldred, C. 1988, Pg. 232), and Marfan's Syndrome
(Redford, D., 1994), (Burridge, A.,1995). This discussion will examine
both disorders in detail.

Froehlich's Syndrome

The most popular belief is that Akhenaten
suffered from Froehlich's Syndrome, an endocrine disorder found most commonly
in men. The endocrine system consists of the
glands in the body which produce and release into the bloodstream certain
chemicals known as hormones. Hormones regulate various bodily functions,
like glucose and insulin levels in the blood, growth, salt metabolism,
and sexuality. The main endocrine gland is the pituitary, located in the
forebrain. The pituitary gland is divided into two parts: the anterior
pituitary, which regulates the activities of the other glands in the system
and is also responsible for the release of growth hormone, and the posterior
pituitary, which regulates water and salt metabolism. The pituitary is
regulated in turn by the hypothalamus, which also regulates hunger and
various other biological functions. (Weiten, W., 1995). Froehlich's Syndrome can be caused
by a variety things, the most common being a tumor in either the pituitary
gland or the hypothalamus (Aldred, C. 1988, Pg. 232), (Brittanica, Vol.
5, 1992, Pg.19).If Froehlich's Syndrome occurs as a tumor only in the
pituitary gland, then it mainly seems to affect the secondary sex characteristics
in men. The secondary sex characteristics include body hair and deepening
of the voice. The reason that Froehlich's Sydrome causes this lack of sexual
development is that the gonads or sex glands (the testes, in men) don't
function properly as a result of the impaired functioning of the pituitary.
Froehlich's Syndrome also results in infertility, a lack of sex drive,
and feminine fat distribution (Aldred, C. 1988, Pg. 232). If Froehlich's Syndrome occurs as
a tumor in the hypothalamus, then hunger metabolism is affected, and obesity
occurs (Brittanica, Vol. 5, 1992, Pg. 19). Since the hypothalamus regulates
the pituitary gland, it then also has the effect of stunting sexual development.
Stunted physical growth occurs in either situation. Diabetes can also occur
along with Froehlich's Syndrome. Sometimes the pituitary will become overactive
and cause an overgrown jaw and skull deformities (Aldred, C. 1988, Pg.
232). How well does this fit Akhenaten?
Overall, not too well. Some of the characteristics associated with Froehlich's
Syndrome seem to fit his apparent peculiarities (such as the feminine figure
and the prominent jaw), but many of the main symptoms of the illness do
not. Akhenaten, despite the fact that he is shown as a eunuch in some of
the artwork from his time, seemed to be quite fertile (we know that he
fathered six children, possibly more), did not seem to show stunted physical
growth, and was definitely not obese. Another symptom of Froehlich's is
severe mental retardation (Burridge, A., 1995), and it is apparent from
literary works by the king that he was not at all retarded.Therefore, it is unlikely that Akhenaten had Froehlich's
Syndrome, and historians have turned to another option: Marfan's Syndrome.

Marfan's Syndrome: The most recently suggested possibility
for Akhenaten's supposed pathology is a genetic disorder known as Marfan's
Syndrome. This is a more likely possibility than Froehlich's Syndrome,
as it does not affect intelligence or fertility (Burridge, A., 1995), (Redford,
D., 1994). Marfan's Syndrome was first described
by a French doctor named Antione B. Marfan, who reported that some of his
patients had especially long fingers (he called this arachnodactyly, or
spider-fingers), skeletal abnormalities (including arms that were disproportionately
long), and high, arched pallets. He also noticed spine defects (Wieczorek,
Riegel, & Quattro, 1996). Antione noted that these traits seemed
to be inherited, and it is now certain that Marfan's Syndrome is a hereditary
disease, and the gene for it is autosomal dominant (Wieczorek, Riegel,
& Quattro, 1996). A dominant gene is one that will overwrite
other genes so that only one is required for the trait that that particular
gene carries to be expressed. A person who inherits a dominant gene from
one parent will automatically have the trait that the gene produces, unlike
with recessive genes in which a gene for the trait must be inherited from
each parent for the trait to show. Autosomal means that the gene is on
a non-sex chromosome. There are 46 chromosomes in every human cell, and
they make 23 pairs, each one connected by a centrome. The 23rd pair consists
of the sex chromosomes (American Medical Association, 1993). The gene for
Marfan's Syndrome is located on pair fifteen. This gene causes the occurrence
of too many microfibrillar fibers in the connective tissue, which results
in a lack of flexibility in the body's tissues (Wieczorek, Riegel, &
Quattro, 1996). Marfan's Syndrome almost always occurs
as an inherited trait (about 75 to 85 percent of the time), but it can
sometimes show up spontaneously in a person from a family that has never
shown any signs of the disorder. Marfan's Syndrome, because it is dominant,
will not skip generations (Wieczorek, Riegel, & Quattro, 1996). (A
recessive gene can be passed on without showing up for many generations,
because two are needed for the trait to show, but if a dominant gene is
going to show up, it will do so right away.) Marfan's syndrome has a 50%
chance of being passed on to the children of an affected person. If the
gene for Marfan's Syndrome is passed on, it will invariably show up, but
the degree to which it shows its symptoms varies considerably (Bruckheim,
A. H., 1993). Skeletal abnormalities that have been
noticed in Marfan's patients are a long face, an unusually tall stature,
a short upper body in comparison to the lower body (because they have a
short ribcage), and overgrown ribs. The latter results in chest deformities
such as Pectus Excavatum (funnel chest) or Pectus Carnatum (pigeon breast).
A wide pelvis, elongated skull, and prominent shoulder blades are other
symptoms (Burridge, A., 1995). One of the most distinctive characteristics
of Marfan's Syndrome is unusually long arms, fingers, and toes. These skeletal
problems can show up in either childhood or adolescence, and sometimes
they do not show up at all (Wieczorek, Riegel, & Quattro, 1996). Extremely
mobile joints are another common characteristic. A good many victims have eye problems,
like dislocated lenses, severe nearsightedness, iridodensis (a quivering
motion of the iris), cataracts, detaching retinas, and glaucoma (Wieczorek,
Riegel, & Quattro, 1996). Because of the excessive fibers in
the tissues of people with Marfan's Syndrome, their tissues often stretch
to the point of breaking under the strain of normal tissue stress. There
are often stretch marks on the skin, as a result of this. When this sort
of stretching occurs in the aorta (the major artery that comes out of the
heart), it can break, resulting in major complications (Wieczorek, Riegel,
& Quattro, 1996). Because of the heart problems, people with Marfan's
Syndrome usually have a short life-span, perhaps of about thirty years
(Burridge, A., 1995). People with Marfan's Syndrome often suffer from various
lung problems as well. Most patients show signs of emphysema, and 5% of
the people with Marfan's Syndrome have problems with collapsed lungs (Bruckheim,
A. H., 1993). Muscle weakness may also occur (Bruckheim,
A. H., 1993). This, along with the hypermobile joints, can result in accident
proneness. Marfan's victims also show a strong
sensitivity to cold (Burridge, A., 1995). Some other famous people who have
been suggested as having Marfan's Syndrome are Abraham Lincoln, Sergie
Rachmaninoff, Niccolo Paginini, Mary, Queen of Scots, and Flo Hyman (Burridge,
A., 1995; Wieczorek, Riegel, & Quattro, 1996). From this information, it would seem
that Marfan's Syndrome best suits Akhenaten's possible affliction. He did
show traits like arachnodactyly, an unusually long face, a tall, slender
build, and a wide pelvis. His relatives are shown as having similar features,
and elongated skulls. The fact that the rest of his family apparently showed
some of these traits also suggests that he had a genetic disorder such
as Marfan's Syndrome. He also lived for about the amount of time that a
Marfan's victim lives without medical assistance.

Other Theories:

Did Akhenaten really have any kind of
ailment at all? There is certainly a possibility that there was nothing
wrong with him. Any conclusions drawn simply from looking at artwork are
highly questionable. If historians three thousand years in the future were
to come to the same sorts of conclusions from looking at today's political
cartoons, for instance, they would probably think that just about every
president or political leader that the U.S. has ever had suffered from
some kind of bizarre disorder. A good many people have offered alternative
explanations as to why Akhenaten was portrayed so strangely. One theory is that it was some form
of religious symbolism. Because the god Aten was referred to as "The mother
and father of all human kind," it has been suggested that Akhenaten was
made to look androgynous in artwork as a symbol of the androgyny of the
god (Aldred, C. 1988, Pg. 235).It has also been suggested that the distinctive art of
this time was some kind of expressionistic art style, and it has been pointed
out that everyone depicted in the artwork of the period showed some of
the odd features of the king and his family. One thing that would suggest that
Akhenaten did have an illness of some kind was the fact that he
remained hidden for a good portion of his father's reign. Normally, a great
deal of attention would be devoted to the heir to the throne. It should
be noted that Akhenaten had an older brother, Tuthmose, who died at an
early age. Perhaps if Marfan's Syndrome did run in the family, Tuthmose's
early death was a result of some of the complications associated with the
disease. If this were the case, though, one would have to wonder why Tuthmose
was not hidden as well. Perhaps he did not show some of the more visible
abnormalities that are sometimes present, such as the skeletal problems.
The extent to which various symptoms of the illness show up can vary greatly. Before any specific ailments were
suggested, some historians speculated that Akhenaten's possible illness
may have somehow accounted for his strange behavior. This is probably not
the case, but Akhenaten did call himself "The Unique One of Re," and it
would seem that he used his odd appearance as part of this image. No mummy has yet been identified as
being that of Akhenaten. Obviously, it would be hard to tell whether he
had symptoms like bad eyesight or heart problems, even if his body were
to be found. However, the bodies of several of Akhenaten's known relatives
have been found, and a reasonably sure way we would have of finding out
whether Akhenaten had Marfan's Syndrome would be to do genetic testing
on his known relatives. If this were to be done, it would provide invaluable
information about Akhenaten and his family.